Results 41 to 50 of about 4,001 (193)
Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy [PDF]
, 2014 No treatment is available for patients affected by the recessively inherited, progressive muscular dystrophies caused by a deficiency in the muscle membrane repair protein dysferlin.
Di Fulvio, S. +4 more
core +1 more source
PLoS ONE, 2020 Limb-girdle muscular dystrophy type 2B (LGMD2B) is caused by mutations in the dysferlin gene, resulting in non-functional dysferlin, a key protein found in muscle membrane.
Mary L Vallecillo-Zúniga +13 more
doaj +1 more source
Frontiers in Neurology, 2021 Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total ...
Huili Zhang +5 more
doaj +1 more source
Dysferlin in Membrane Trafficking and Patch Repair [PDF]
Traffic, 2007 The muscular dystrophies are a heterogeneous group of inherited disorders, defined by progressive muscle weakness and atrophy. Following the discovery of dystrophin, remarkable progress has been made in defining the molecular properties of proteins involved in the various dystrophies.
Louise, Glover, Robert H, Brown
openaire +2 more sources
Characterisation of the dysferlin skeletal muscle promoter [PDF]
European Journal of Human Genetics, 2003 Deficiency of the skeletal muscle membrane protein dysferlin causes the related and overlapping neuromuscular disorders limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. This paper describes the preliminary characterisation of the human dysferlin promoter. The transcriptional start site of dysferlin has been mapped using 5' RACE PCR,
Foxton RM, Laval SH, Bushby KMD
openaire +3 more sources
609. Systemic Delivery of Dysferlin Overlap Vectors Mediates Functional Recovery of Dysferlin Deficiency [PDF]
Molecular Therapy, 2015 Dysferlinopathies comprise a family of disorders caused by mutations in the dysferlin (DYSF) gene leading to absent or mutant protein. Dysferlin protein has been implicated in multiple functional roles specifically in membrane stabilization/repair, t-tubule formation and vesicle trafficking.
Sondergaard, Patricia C. +6 more
openaire +1 more source
DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B
Molecular Therapy: Methods & Clinical Development, 2017 Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma +4 more
doaj +1 more source
Dysferlin Regulates Cell Adhesion in Human Monocytes [PDF]
Journal of Biological Chemistry, 2013 Dysferlin is mutated in a group of muscular dystrophies commonly referred to as dysferlinopathies. It is highly expressed in skeletal muscle, where it is important for sarcolemmal maintenance. Recent studies show that dysferlin is also expressed in monocytes.
Morree, A. de +10 more
openaire +4 more sources
Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes
Cellular Physiology and Biochemistry, 2015 Background/Aims: Dysferlin plays a decisive role in calcium-dependent membrane repair in myocytes. Mutations in the encoding DYSF gene cause a number of myopathies, e.g. limb-girdle muscular dystrophy type 2B (LGMD2B).
Lena Rubi +5 more
doaj +1 more source
Mechanisms of Endothelial Cell Membrane Repair: Progress and Perspectives
Cells, 2023 Endothelial cells are the crucial inner lining of blood vessels, which are pivotal in vascular homeostasis and integrity. However, these cells are perpetually subjected to a myriad of mechanical, chemical, and biological stresses that can compromise ...
Duoduo Zha +5 more
doaj +1 more source